Endocrine Diseases Flashcards
1
Q
What is the aetiology of SIADH?
A
- Tumours:small cell carcinoma of lung= most common. also Prostate, thymus, pancreas
- Pulmonary lesions: pneumonia, TB
- Metabolic causes: Alcohol withdrawal
- CNS: Meningitis, tumours, head injury, subdural haematoma
- Drugs: Chlorpromide, carbamezapine etc
2
Q
Briefly explain the pathophysiology of SIADH?
A
- Excess ADH release causes excess insertion of aquaporin 2 channels in apical membrane of collecting duct
- Therefore excess water retention and hyponatraemia
3
Q
How is SIADH diagnosed?
A
- Low serum Na+, high urine Na+
- Euvolaemia: normal blood vol
- Low plasma osmolality, high urine osmolality
4
Q
What are the signs + symptoms of SIADH?
A
- Symptoms due to hyponatraemia
- Varied and genetic
- Anorexia, nausea and malaise
- Weakness and aches
- Reduction in GCS and confusion with drowsiness
- Fits and coma if severe
5
Q
How is SIADH treated?
A
- Treat underlying cause
- Restrict fluids to 500-1000ml daily
- Hypertonic saline if really symptomatic to prevent brain swelling
- Oral demeclocycline daily (Inhibits ADH)
- Vasopressin antagonist [ADH antagonist] e.g. oral tovaptan daily
- Salt and loop diuretic
Acute <48hrs = treat the hyponatraemia urgently to reduce risk of cerebral oedema
- Hypertonic saline 3%
Chronic >48hrs = slow and steady correction – max 10mmol/L/day
- Fluid restriction in mild to moderate cases
- ADH antagonists or demeclocycline in severe or symptomatic cases.
6
Q
What is Conn’s syndrome?
A
Primary hyperaldosteronism= Excess production of aldosterone, independent of the renin-angiotensin system. Resulting in:
- increased sodium, and thus water retention
- increased blood pressure
- decreased renin release
7
Q
What is the epidemiology of Conn’s syndrome?
A
Rare condition accounting for less than 1% of hypertension
8
Q
What is the aetiology of Conn’s syndrome?
A
- 2/3rds= Adrenal adenoma that secretes aldosterone
- 1/3rd= Bilateral adeno-cortical hyperplasia
9
Q
What are the risk factors for Conn’s syndrome?
A
- Middle aged adults
- Pts with family hx of early onset hypertension.
- Conventional antihypertensives don’t work
- Unusual symptoms e.g. sweating
10
Q
Briefly explain the pathophysiology of Conn’s syndrome
A
- Excess aldosterone production due to aldosterone producing carcinoma
- Na+ and water retention, thus K+ loss (to balance charge
- Thus hypokalemia and hypertension
11
Q
What is the clinical presentation of Conn’s syndrome?
A
- Often asymptomatic
- Hypertension due to increased blood vol, associated with renal, cardiac and retinal damage
- Hypokalaemia: Weakness, cramps, paraesthesia
12
Q
How is Conn’s syndrome diagnosed?
A
- U+Es: hypokalaemia + hypernatraemia
- Plasma Aldosterone:Renin Ratio (ARR)= If increased aldosterone levels that are not suppressed w 0.9% saline infusion= Diagnostic
- low renin + raised aldosterone = primary hyperaldosteronism
- raised renin + raised aldosterone = secondary hyperaldosteronism
- CT or MRI on adrenal
- Hypokalaemic ECG= Flat T wave, ST depression, Long QT
13
Q
How is Conn’s syndrome treated?
A
- Laproscopic adrenalectomy
- Aldosterone antagonist e.g. oral sprinolactone for 4 weeks pre-op to control BP and K+
14
Q
What is gigantism?
A
Excessive GH production in children before fusion of the growth plates
15
Q
What is acromegaly?
A
Excessive GH in adults
16
Q
What is the aetiology of acromegaly?
A
- Most cases are due to benign GH producing pituitary adenoma
- rarely ectopic GH producing tumour e.g. pancreatic or lung tumours
17
Q
What is the epidemiology of acromegaly?
A
Rare, increased incidence in middle age
18
Q
What are the risk factors for acromegaly?
A
5% associated with MEN-1
19
Q
Briefly explain the pathophysiology of acromegaly
A
- Increased GH due to pituitary tumour or ectopic carcinoid tumour
- Binds to receptors, resulting in increased IGF-1
- This stimulates skeletal muscle and soft tissue growth
- Local tumour expansion can also cause compression of the pituitary gland and bitemporal hemianopia
20
Q
List some symptoms of acromegaly
A
- Increased size of hands and feet
- Prominent jaw
- Headaches
- Splayed teeth
- Enlarged tongue
- Excessive sweating
- Bitemporal hemianopia
- Snoring
- Wonky bite
- Weight gain
- Low libido
- irregular periods F and erectile dysfunction M
- Backache
21
Q
List some signs of acromegaly
A
Skin darkening Fatigue Deep voice Carpal tunnel syndrome Macroglossia Coarsening face with wide nose Prognanthism and big supraorbital ridge
22
Q
List some common co-morbidities with acromegaly
A
- Diabetes
- Sleep apnoea
- CVS Problems
- menstrual irregularities
- erectile dysfunction
23
Q
How is acromegaly diagnosed?
A
- IGF1= Raised = Diagnostic
- Glucose tolerance test= No suppression of GH= Diagnostic/ Gold standard
- MRI of pituitary fossa
- Old photos= See changes
- Plasma GH levels= Can rule out acromegaly if random GH is undetectable or is low
- Pituitary function test: high prolactin in20% of pts
24
Q
How is acromegaly treated?
A
- 1st line treatment= Trans-sphenoidal surgery to remove tumour and fix compression.
- 2nd line = Dopamine agonist e.g. Oral cabergoline or somatostatin analogues e.g. IM octreotide
- GH receptor antagonists if intolerant to SSA= Supresses IGF-1
- Stereotactic radiotherapy
25
What is the epidemiology of diabetes mellitus type 1?
Typically occurs in childhood
Increasing incidence
Common in Northern Europe
26
Briefly explain the pathophysiology of T1DM
- Absolute insulin deficiency caused by autoimmune destruction of the beta cells in the islets of Langerhans -> no insulin production + ↑ blood glucose
- Low blood glucose -> glucagon secretion which tells the liver to convert glycogen into glucose via glycogenolysis.
- the liver also converts lipids into glucose via gluconeogenesis
- overall result is even more hyperglycaemia.
27
What is the aetiology of T1DM?
Autoimmune against Beta cells - viral infection can trigger autoimmune response
Idiopathic
Genetic susceptibility - HLA-DR3 and HLA-DR4
28
What are the risk factors for T1DM?
- Family history
- Associated with OTHER autoimmune disease: thyroidisms, coeliacs, Addison's, perncious anaemia
- Viral infection with enteroviruses
29
How is T1DM treated?
1. insulin – basal bolus
2. lifestyle advice on carb counting and diet + SICK days
- Basal bolus regimen = long acting dose OD or BD + rapid acting doses before meals
- Mixed insulin regimen: short/rapid acting + intermediate acting insulins mixed BD good for pts that don’t like multiple injections. Good for kids.
30
What are the complications of T1DM treatments?
Hypoglycaemia
Lipohypertrophy
Weight gain
31
What is the aim of T1DM treatment?
Aims to keep the blood sugar level as close to normal as possible to delay or prevent complications
32
What is the acute presentation of diabetes mellitus?
```
Young people (usually DMT1) often present in first 2-6 weeks with polyuria and nocturia, polydipsia and weight loss
Patients may have ketonuria and breath smelling of ketones (Pear drops)
```
33
What is the subacute presentation of diabetes mellitus?
Occurs during first months-years
Typical triad of polyuria, polydipsia and weight loss but all are less marked
Also lack of energy, visual blurring, infections
34
What are the complications that can be the presenting features for diabetes mellitus?
- Staph. skin infection
- Retinopathy
- Polyneuropathy causing tingling and numbness in the feet
- Erectile dysfunction
- Arterial disease
- DKA
35
What would be the only clinical feature of asymptomatic diabetes mellitus?
Glycosuria/hyperglycaemia
36
What is the plasma glucose concentration that is diagnostic for diabetes mellitus (DMT1 usually)?
- Random plasma glucose >11.1 mmol/L
- Fasting plasma glucose >7 mmol/L
- Oral glucose tolerance test: >11mmol/L two hours after a 75g oral glucose load
- In symptomatic individuals, one result is diagnostic. -
- If there is only one positive, perform a oral glucose tolerance test (again >7 for fasting, and >11.1 for random)
37
What test can be performed for diabetes mellitus risk?
IGT (Impaired glucose tolerance)
38
What is the main test for DMT2?
HbA1c > 48
39
What is the epidemiology of hyperosmolar, hyperglycaemic state?
Patients present in middle/later life often with previously undiagnosed diabetes
40
What are the risk factors for hyperosmolar, hyperglycaemic state?
Infection= Most common cause
Myocardial infarction
Poor medication compliance
41
Briefly explain the pathophysiology of hyperosmolar, hyperglycaemic state?
- T2DM causes insulin resistance and relative deficiency -> hyperglycaemia -> osmotic diuresis: glucose loss in the urine and water follows
- This causes osmotic diuresis and hyperosmolarity -> polyuria, polydipsia, dehydration, confusion etc.
- Endogenous insulin levels are reduced but are still sufficient to inhibit hepatic ketogenesis but insufficient to inhibit hepatic glucose production
42
What is the clinical presentation of hyperosmolar, hyperglycaemic state?
- Severe dehydration
- Decreased consciousness
- Hyperglycaemia
- Hyperosmolality
- No ketones in blood/urine
- Stupor or coma
- Bicarbonate isn't lowered + no acidosis
43
How is hyperosmolar, hyperglycaemic state diagnosed?
- Urine dipstick – glycosuria no ketones
- Bedside ketone and capillary glucose: hyperglycaemia ≥11mmol/l without significant ketonemia
- ABG or VBG = hyperglycaemia without metabolic acidosis
- Plasma osmolality is extremely high
- Total body K+ is low, but serum K+ is often raised
44
How is hyperosmolar, hyperglycaemic state treated?
Lower rate of insulin infusion
Fluid replacement with 0.9% saline
Restore electrolyte loss potassium replacement
Low molecular weight heparin (SC Enoxaparin) to reduce risk of thromboembolism, MI, stroke, and arterial thrombosis
45
What blood glucose level is classed as hypoglycamia?
- Plasma glucose <4 mmol/L
46
What is the aetiology of hypoglycamia?
- In diabetes= due to insulin or sulphonylurea treatment
- In non diabetes= Exogenous drugs, pituitary insufficiency, liver failure, Addison's disease, Islet's cell tumour, Non pancreatic neoplasm, burns, sepsis
47
What is the clinical presentation of hypoglycamia?
- Autonomic= Sweating, anxiety, hunger, tremor, palpitations, dizziness
- Neuroglycopenic= Confusion, drowsiness, visual trouble, seizures, coma
- Rarely, focal symptoms= Personality change, transient hemiplegia, mutism etc
48
How is hypoglycamia diagnosed?
- Fingerprick blood glucose= Shows hypoglycaemia,
- bloods: C peptide and ketones
- Take drug history and exclude liver failure
49
How is hypoglycamia treated?
Oral sugar and long acting starch
If pt is concsious
- Fast acting carb :Glucose tablets, gel or liquid or fruit juice. Then recheck blood glucoe after 10-15 mins.
- Long acting carb: once BG>4mmol/L – a meal if due or snack like bread or biscuits.
- IM glucagon or IV glucose: given if pt doesn’t respond to the fast acting glucose
If pt is unconscious
- IM glucagon first
- IV glucose: 10% or 20% solution
- Long acting carb: once BG >4mmol/L – a meal if due or snack like bread or biscuits.
50
What is the epidemiology of diabetic nephropathy?
Clinical nephropathy secondary to glomerular disease usually manifests 15-25yrs after diagnosis and affects 25-35% of patients diagnosed under age 30
51
What is the pathophysiology of diabetic nephropathy?
Thickening of the basement membrane in glomerulus due to poor glycaemic control, which leads to micro-albuminuria
52
What are the risk factors for diabetic nephropathy?
Poor blood pressure and blood glucose control
53
How is diabetic nephropathy diagnosed?
- Urine albumin:creatinine ratio >3 will indicate micro albuminuria
- This may progress to intermittent albuminuria followed by persistent proteinuria
- Normochromic normocytic anaemia
- raised ESR
54
How is diabetic nephropathy treated?
- Aggressive treatment of high BP
- Reductions in insulin dosage as insulin sensitivities is increased
- Avoid drugs excreted via kidney
55
What is the epidemiology of diabetic neuropathy?
Affects 30-35% of patients with diabetes
56
What is the aetiology of diabetic neuropathy?
Isolated mononeuropathies are thought to be as a result of occlusion of the vasa nervorum. More diffuse neuropathies may arise from the accumulation of the fructose and sorbitol which disrupts the structure and function of the nerve
57
What are the risk factors of diabetic neuropathy?
Hypertension, Smoking, HbA1c, BMI
58
What are the clinical features of diabetic neuropathy?
- Pain: allodynia, burning etc
- Autonomic: Postural hypotension, gastroparesis, diarrhoea, constipation
- Insensitivities: Glove and stocking sensory loss
- Mononeuritis multiplex: damage to at least 2 different areas of the peripheral nervous system
- Diabetic amyotrophy
59
How is diabetic neuropathy treated?
- Good glycaemic control
- Treated with paracetamol
- Tricyclic antidepressants
- Anticonvulsants - gabapentin, pregabalin
- Transcutaneous nerve stimulation
- Avoidance of weight bearing
60
What are the most common complications of diabetes?
- macrovascular = Stroke, MI, peripheral vascular disease, IHD, HF
- Microvascular complications= Diabetic retinopathy, nephropathy, neuropathy
- Diabetic foot ulceration
- Infection
61
What is the epidemiology of diabetic foot ulceration?
Foot ulceration occurs in 15% of people with DM
62
What is the pathophysiology of diabetic foot ulceration?
- Neuropathy results in increased risk of silent trauma of the foot.
- Furthermore, neuropathy results in autonomic features that results in increased skin dryness of foot, which is thus more susceptible to cracking and ulceration.
63
What are some preventative methods for diabetic foot ulceration?
- Diabetic foot screening and education
- Check shoes for sharp bodies
- Tie shoe laces loosly
- Keep feet away from heat
64
List some common infections in diabetes?
- UTI
- Skin infections such as cellulitis, boils, abscesses, staph. infections. Lipohypertrophy
- Rectal abscess
- Pyelonephritis
- Pneumonia
65
List some suggestive features of DMT1 over DMT2?
- DMT1 tends to occur in childhood
- Acute presentation
- Tend to be leaner
- More prone to ketoacidosis
- High levels of autoantibodies
66
List some suggestive features of DMT2 over DMT1?
- Usually over 30s
- Onset is gradual
- Family history
- Diet and exercise often helps
67
What is the epidemiology of DMT2?
- Very common (incidence increasing)
- Older, usually over 30
- More common in men
- Ethnicity- middle Eastern, SE Asian, Western Pacific
68
What are the causes of DMT2?
- Obesity, lack of exercise, calorie and alcohol excess
- No HLA disturbance but genetic link
- Polygenic disorder
69
What are the risk factors for DMT2?
- Age: typically occurs in adults but the incidence amongst children and adolescents is increasing
- Ethnicity: Asian and African
- Family history: 75% risk if both parents have T2DM
- Gestational diabetes
- Polycystic ovary syndrome
- Drugs: corticosteroids, thiazide diuretics
- Obesity and poor exercise
70
Briefly explain the pathophysiology of DMT2
- Insulin resistance caused by repeated exposure to high blood glucose and insulin -> pancreatic beta cell fatigue and ↓ insulin production.
- Environmental factors - Obesity – and genetics paly a role in development.
71
How is DMT2 treated?
1. Exercise, diet, weight loss, BP and lipid control
2. Biguanide e.g. metformin (Reduces rate of gluconeogenesis and increases cell sensitivity to insulin)
3. SGLT2 inhibitors, sulfonylureas, DPP4-inhibitors, GLP-1 agonists, insulin
72
What is Cushing's syndrome?
A general term which refers to chronic excessive and inappropriate elevated levels of circulating cortisol, whatever the cause
73
What is Cushing's disease?
Specifically refers to the excess of glucocorticoids resulting from inappropriate ACTH secretion from the pituitary due to a tumour
74
What is the epidemiology of Cushing's syndrome?
- 10 per 100,000
- Higher incidence in diabetics
- 2/3rds are due to cushing's disease
75
What is the aetiology of Cushing's syndrome?
- ACTH dependent causes= Cushings disease, Ectopic ACTH production, ACTH treatments (e.g. for asthma)
- ACTH independent causes= Adrenal adenoma, iatrogenic e.g. oral glucocorticoids
C – Cushing’s disease (a pituitary adenoma secreting excessiveACTH)
A – Adrenal adenoma (an adrenal tumour secreting excess cortisol)
P – Paraneoplastic syndrome
E – Exogenous steroids (patients taking long-term corticosteroids)
76
Briefly explain the pathophysiology of Cushing's syndrome?
Excess cortisol from:
- adrenal adenomas or hyperplasia which cause zona reticularis to release cortisol.
- iatrogenic causes e.g. glucocorticoids
- alcohol excess, severe depression, obesity, pregnancy
- pituitary adenoma or ectopic tumour secreting ACTH
77
What is pseudo-Cushings syndrome?
- Cushingoid symptoms + abnormal cortisol levels BUT no HPA pathology associated
causes:
- Alcohol, pregnancy, obesity + severe depression
| Will get better after 48 hrs without alcohol
78
What is the clinical presentation of Cushing's syndrome?
- Proximal weakness and Osteoporosis
- Plethoric complexion with moon face and acne
- Mood= Depression, lethargy, irritability, psychosis
- Obesity= Fat distribution is central (Buffalo hump) with purple striae
- Muscle atrophy, thick skin that bruises easily
- Failure for children to grow tall
- Gonadal dysfunction
- Infections
- High BP
- Hyperglycaemia
79
How is Cushing's disease diagnosed?
- Drug history to exclude oral steroids
- Overnight dexamethasone suppression test (No suppression in Cushings
- Random plasma cortisol (but may be inaccurate)
- Urine free cortisol over 24hrs
* **
- CT/MRI on adrenals
- Corticotropin releasing hormone test= if cortisol responds, cushings is likely
- Salivary cortisol
80
How is Cushing's syndrome treated?
- Iatrogenic= Stop steroids
- Cushings disease= Surgical selective removal of pituitary adenoma/ bilateral adrenalectomy if source is undetectable
- Cortisol synthesis inhibition: Metyrapone, ketoconazole
81
What is the clinical presentation of hyperthyroidism?
- Palpitations, tremor and hyperkinesia
- Diarrhoea, weight loss and increased appetite
- Olgiomenorrhoea
- Heat intolerance and sweating
- Behavioural change= Anxiety and irritability
- Lid lag and "stare"
- Proxima myopathy and muscle wasting
- Hands: Palmar erythma, fine tremor
- Diffuse goitre
- Lymphadenopathy and splenomegaly
82
How is hyperthyroidism diagnosed?
- Clinical
- Thyroid function tests- low TSH, High T4/3
- Will be raised TSH in secondary hyperthyroidism
- TPO and thyroglobulin antibodies
- Ultrasound of thyroid
- TSH receptor stimulating antibodies are raised (Diagnostic of graves)
83
How is hyperthyroidism treated?
- Antithyroid drugs = Propylthiouracil (Stops conversion of T4 to T3) or Oral carbimazole (Blocks thyroid hormone biosynthesis and immunosuppressant)
- This can be done via titration or block-replace therapy
- Radioactive iodine
- Surgery
84
What are the causes of hyperthyroidism?
- Graves' (most common)
- Toxic multinodular goitre
- Solitary toxic adenoma
- Drug induced hyperthyroidism - amiodarone
- De Quervain's thyroiditis
85
What is the epidemiology of Hashimoto's thyroiditis?
- Much more common in women
| - Most common cause of goitrous hypothyroidism
86
What are the clinical features of Hashimoto's thyroiditis?
- Thyroid gland may enlarge rapidly, occasionally with dyspnoea or dysphagia from pressure on neck= nodular goitre
- Hashimoto’s thyroiditis can initially cause a goitre, after which there is atrophy (wasting) of the thyroid gland.
- Hypothyroidism= Fatigue, cold intolerance, slowed movement, decreased sweating, hyporeflexia, heavy periods, bradycardia, weight gain, constipation,
87
Briefly explain the pathophysiology of Hashimoto's thyroiditis
an autoimmune condition where antithyroid antibodies that attack the thyroid tissue, causing progressive fibrosis -> Inadequate thyroid hormone production and secretion
88
How is Hashimoto's thyroiditis diagnosed?
- TSH levels raised
- low T3, T4
- Anti-TPO 95%
| - Thyroid antibodies
- Anti-TPO 95%
- anti-thyroglobulin 50%
89
How is Hashimoto's thyroiditis treated?
- Thyroid hormone replacement (levothyroxine)
| - Resection of obstructive goitre
90
What are the complications of Hashimoto's thyroiditis?
- Hyperlipidaemia and IHD
91
What is the aetiology of secondary hypoadrenalism ?
- Inadequate adrenocorticotropic hormone (ACTH) and a lack of stimulation of the adrenal glands, leading to low cortisol.
- This is the result of loss or damage to the pituitary gland: e.g. trauma, tumours, surgery.
92
Briefly explain the pathophysiology of secondary hypoadrenalism
Reduction in the release of ACTH from the anterior pituitary gland results in decreased glucocorticoid (cortisol)
93
What is the clinical presentation of secondary hypoadrenalism?
- Patient may have vague symptoms of feeling unwell
- fatigue, weakness, weight loss, nausea, vomiting, and diarrhea
| - No skin hyperpigmentation since ACTH is reduced
94
How is secondary hypoadrenalism diagnosed?
ACTH levels are low + low cortisol
| Mineralocorticoid production is intact
95
How is secondary hypoadrenalism treated?
- Oral hydrocortisone
- IV if acute
96
What are the risk factors for diabetic retinopathy?
- Long duration DM
- Poor glycaemic control
- Hypertensive
- On insulin treatment
- Pregnancy
97
How will proliferative retinopathy be seen?
- New vessels on disc and elsewhere
- Pre retinal or vitreous haemorrhage
- Fibrous +/- tractional retinal detachment
98
How is diabetic retinopathy treated?
- Laser therapy = stabilises deterioration and prevents progression (doesn't cure)
99
How is diabetic retinopathy usually diagnosed?
- National eye screening programme with retinal photography
100
What is the epidemiology of diabetic ketoacidosis?
- Hallmark of DMT1
| - Usually can't occur in DMT2 unless very advanced
101
What are the clinical features of diabetic ketoacidosis?
- The excess ketones are excreted in the urine and appear in the breath= pear drop scent
- Profound dehydration and vomitting= eyes are sunken, tissue turgor is reduced and tongue is dry
- polydipsia +polyuria
- can lead to shock in severe cases
- Gradual drowsiness, lethargy + confusion.
- May have severe abdominal pain
- Kussmaul's respiration (Deep and rapid)
- Body temp is often subnormal
102
What are the risk factors for diabetic ketoacidosis?
- Stopping insulin therapy
- Infection e.g. UTI
- Surgery
- MI
- Pancreatitis
- Undiagnosed diabetes
103
How is diabetic ketoacidosis diagnosed?
- Blood glucose>11mmol/l
- Plasma ketones >3mmol/L
- Acidaemia, blood pH <7.3
- Bicarbonate <15mmol/L
- Urine dipstick= Glycosuria and ketonuria
- Total body K+ is low
- Increased urea and creatinine due to dehydration
104
How is diabetic ketoacidosis treated?
F – Fluids – IV fluid resuscitation with normal saline (e.g., 1 litre in the first hour, followed by 1 litre every 2 hours)
I – Insulin – fixed rate insulin infusion (e.g., Actrapid at 0.1 units/kg/hour)
G – Glucose – closely monitor blood glucose and add a glucose infusion when it is less than 14 mmol/L
P – Potassium – add potassium to IV fluids and monitor closely (e.g., every hour initially)
I – Infection – treat underlying triggers such as infection
C – Chart fluid balance
K – Ketones – monitor blood ketones, pH and bicarbonate
105
Briefly explain the pathophysiology of diabetic ketoacidosis
- High hepatic gluconeogenesis and peripheral uptake by tissues is reduced
- High circulating glucose levels result in an osmotic diuresis by the kidneys and consequent dehydration and loss of electrolytes
- Peripheral lipolysis leading to an increase in circulating FFAs, which are broken down into ketone bodys within the mitochondria
- Metabolic acidosis then occurs
- As pH falls, pH dependant enzyme systems can't function
106
What is the epidemiology of Addison's disease?
- Very rare= 0.8 per 100,000
| - Marked female preponderance
107
What are the common causes of Addison's disease?
- Autoimmune adrenalitis
- TB, meningococcal infection
- Adrenal metastases
- Opportunistic infections in HIV
108
Briefly explain the pathophysiology of Addison's disease
- Destruction of the entire adrenal cortex
- Reduced glucocorticoid, mineralocorticoid and androgen production
- Increased CRH, and ACTH in response to low cortisol levels
109
What is the clinical presentation of Addison's disease?
- Lethargy
- Low mood, Low self esteem
- Anorexia and weight loss
- Vitiligo, tanned skin, pigmentation of skin
- Vomitting and nausea
- Diarrhoea, constipation and abdominal pain
- Amenorrhoea
- Postural hypotension, dizziness
- Lean build
- Dehydration, critical deterioration
110
How is Addison's disease diagnosed?
- Blood tests: Hyponatraemia, hyperkalaemia, hypoglycaemia, hypoaldosteronism, low cortisol, uraemia, Raised Ca2+, FBC, Eosinophilia
- Short ACTH stimulation test= Measure cortisol 30mins after IM tetracosactide. Exclude Addisons if cortisol >550nmol/L
- Adrenal antibodies = Adrenalitis
- 9am ACTH. If increased= Addison's
111
How is Addison's disease treated?
- If patient is seriously ill= IV hydrocortisone, IV 0.9% saline, glucose infusion if hypoglycaemia
- Replace steroids x3 daily= Glucocorticoids (oral hydrocortisone) and mineralocorticoids (oral fludrocortisone)
- Increase steroids in stress, illness, pregnancy
112
What are the clinical features of an Adrenal crisis?
- Vomitting and nausea
- Abdominal pain
- Muscle cramps
- Confusion
113
How is an Adrenal crisis treated?
- IV hydrocortisone immediately
114
What is the epidemiology of hypocalcaemia?
- Very common in hospitalised patients
| - Correlates with severity of illness
115
What is the clinical presentation of hypoparathyroidism/hypocalcaemia?
SPASMODIC= Spasms (Tetany), Paresthesia, Anxiety, Seizures, Muscle tone increased (wheeze), Orientation impaired, Dermatitis and diarrhoea, Cataracts, Chvostek's sign and cardiomyopathy
116
What are the causes of hypocalcaemia?
- Chronic kidney disease
- Severe vitamin D deficiency
- Reduced PTH function= hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism
117
What are the clinical features of pseudohypoparathyroidism?
- Short stature
- Short metacarpals (4th)
- Subcutaneous calcification
- May be intellectual impairment
118
What are the results of a pseudohypoparathyroidism serum blood test?
- High serum PTH
- Low serum Ca2+
- High serum phosphate
119
How is hypocalcaemia diagnosed?
- Blood tests= Ca2+, PTH, PO4
- X ray of metacarpals for pseudohypoparathyroidism
- Serum urea, creatinine and eGFR for renal function
- Parathyroid antibodies in idiopathic hypoparathyroidism
- Vit D and magnesium levels
- ECG= QT elongation in hypocalcaemia
120
What are the results of a hypoparathyroidism serum blood test?
- Low serum Ca2+
- Low serum PTH
- High serum PO4
121
What are the results of a pseudopseudohypoparathyroidism serum blood test?
- Normal serum Ca2+
- Normal serum PTH
- Normal serum PO4
122
How is hypocalcaemia/hypoparathyroidism treated?
- IV calcium gluconate over 30 mins with ECG monitoring
- If vit D defiency= Oral cholecalciferol or oral adcal
- Hypoparathyroidism= Calcium supplements and calcitriol
123
What is the epidemiology of Graves' disease?
- More common in females
| - Most commonly presents at 40-60 yrs
124
What are the risk factors for Graves' disease?
- Female
- Genetic- HLA B8, DR3, DR2
- E coli and other gram negative bacteria
- Smoking
- Stress
- High iodine intake
- Autoimmune disease= Vitiligo, DMT1, Addiso's etc
125
Briefly explain the pathophysiology of Graves' disease
- Thyroid stimulating immunoglobulins recognise and bind to immunoglobulins recognise and bind to the TSH receptor which stimulates T3/4
- Thyroxine receptors in the pituitary are activated by excess hormone
- Therefore reduced release of TSH in negative feedback loop, so high levels of T3/4 and low TSH
126
What are the specific clinical features of Graves' disease?
- Graves ophthalmopathy= Presents in most Graves' and some autoimmune hypothyroidism patients. Includes retro-orbital inflammation, eye discomfort, conjunctival oedema, photophobia, reduced acuity
- Graves dermopathy= Pretibial myxoedema, and swollen clubbed fingers
127
What is the epidemiology of thyroid carcinoma?
- Not common
| - More common in females
128
What are the types of thyroid carcinoma?
- Papillary (70%)
- Follicular (20%)
- Anaplastic (<5%)
- Lymphoma (2%)
- Medullary cell (5%)
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What is the most common type of thyroid carcinoma?
Papillary (70%)
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What are the clinical features of thyroid carcinoma?
- Thyroid nodules
- Thyroid may increase in size, and be hard and irregular
- May have dysphagia or hoarseness of voice due to tumour compression
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How is thyroid carcinoma diagnosed?
- Fine needle aspiration cytology biopsy and ultrasound: distinguish between benign and malignant
- Blood tests (TFTs): To check if hyper or hypo thyroid
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How is thyroid carcinoma treated?
- Radioactive iodine
- Levothyroxine to keep TSH reduced
- Chemotherapy to reduce risk of spread and treat micrometastases
- Thyroidectomy
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What is the aetiology of nephrogenic diabetes insipidus?
- Hypokalaemia
- Hypercalcaemia
- Drugs: Lithium chloride, glibenclamide
- Renal tubular acidosis
- Sickle cell disease
- Prolonged polyuria of any cause
- Familial
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What are the clinical features of diabetes insipidus?
- Polyuria
- Compensatory polydipsia
- Hypernatraemia due to water loss in excess of Na+ loss: lethargy, thirst, weakness
- Can lead to severe dehydration if the thirst mechanism or consciousness is impaired or patient is denied fluid
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How is diabetes insipidus diagnosed?
- Urine vol to confirm polyuria
- Check blood glucose to exclude DM
- Water deprivation test
- To differentiate between neurogenic or cranial- give IM desmopressin. Urine will not be concentrated in nephrogenic, but will in cranial
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How is nephrogenic diabetes insipidus treated?
- Treat the cause- usually renal disease
- Give thiazide diuretics
- NSAIDs
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What is the aetiology of cranial diabetes insipidus?
- Idiopathic
- Congenital defects in ADH gene
- Diseases of the hypothalamus
- Tumour
- Trauma
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How is cranial diabetes insipidus treated?
- Find the cause- MRI of head and test ant. pituitary
| - Give synthetic analogue of ADH e.g. oral desmopressin
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What is the aetiology of hypokalaemia?
- Increased renal excretion= Diuretics (most common), increased aldosterone, renal disease, mineralocorticoids
- Reduced dietary K+ intake
- Redistribution into cells
- GI losses
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What are the clinical features of hypokalaemia?
- Usually asymptomatic
- Muscle weakness
- Cramps
- Hypotonia
- Hyporeflexia
- Tetany
- Palpitations
- Light headedness
- Constipation
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How is hypokalaemia diagnosed?
- Serum K+ (less than 3.5= hypokalaemia, less than 2.5. is an emergency)
- ECG= Small or inverted T waves, prominent U waves, a long PR interval, depressed ST segment
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How is hypokalaemia treated?
- Medication review (withdrawal from diuretics)
- Give oral K+ supprlements
- Can give IV K+ but with extreme caution
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What is the aetiology of hyperkalaemia?
- Decreased exertion= AKI or oliguric renal failure, Some medications, Addisons
- Diabetic ketoacidosis
- Metabolic acidosis
- Tissue lysis/ necrosis
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What are the clinical features of hyperkalaemia?
- Asymptomatic until K+ is high enough to cause cardiac arrest
- Fast irregular pulse, chest pain, dizziness
- Muscle weakness and fatigue
- May be associated with metabolic acidosis = kussmauls respiration
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How is hyperkalaemia treated?
- Medication review
- Dietary K+ restriction
- Polystyrene sulfonate resin
- If urgent, calcium gluconate to stabilise cardiac membrane, and soluble insulin to drive K+ into cells
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How is hyperkalaemia diagnosed?
- Serum K+. Over 5.5 is hyperkaelaemia, and over 6.5 is emergency
- Progressive abnormalities on ECG= Tall tented T waves, small P waves, Wide QRS complex
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What are the clinical features of carcinoid syndrome?
- Diarrhoea
- Flushing
- Palpitations
- Abdominal cramps
- Signs of right heart failure
- Bronchospasm
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How is carcinoid syndrome diagnosed?
- High vol of 5-hydroxyindolaecetic acid
- Metabolic panel and LFTs
- Liver ultrasound to confirm metastases
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How is carcinoid syndrome treated?
- Local disease: Surgical resection and perioperative octreotide infusion
- Metastases: above and additional radiotherapy ablation
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What is phaeochromocytoma?
A very rare adrenal medullary tumour that secretes catecholamines
151
What are the clinical features of phaeochromocytoma?
- Headache
- Profuse sweating
- Palpitations
- Hypertension
- Postural hypotension
- Tremor
- Hypertensive retinopathy
- Pallor
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How is phaeochromocytoma diagnosed?
- Plasma metanephrines and normatanephrines
- 24 hr urinary total catecholamines
- CT for tumour
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How is phaeochromocytoma treated?
Alpha blockers
Antihypertensive crisis
Tumour removal
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What would raised TSH receptor stimulating antibodies be indicative of?
Graves' disease
155
What would TPO and thyroglobulin antibodies be indicative of?
Graves or other causes of hyperthyroidism
156
What are the clinical features of hypothyroidism?
- Cold intolerance
- Low mood
- Fatigue
- Constipation
- Weight gain
- Decreased sweating
- Amenorrhea
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what is kussamaul breathing
deep, laboured breathing associated with metabolic acidosis = compensatory mech to reduce acidity
